The following is a summary of “Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis,” published in the April 2024 issue of Allergy & Immunology by Clabbers, et al.
Filaggrin (FLG) gene variants increase the risk of atopic dermatitis (AD). For a study, researchers sought to assess the impact of FLG variants on the efficacy of dupilumab treatment in AD.
The study was a prospective observational study conducted on adult patients with AD undergoing dupilumab therapy from the BioDay registry. The analysis of FLG variants was done using single-molecule molecular inversion probe–targeted sequencing, with confirmation of novel mutations by Sanger sequencing. Various clinical parameters including Eczema Area and Severity Index (EASI), Investigator Global Assessment (IGA), numeric rating scale (NRS) for pruritus, Dermatology Quality of Life Index (DLQI), and Patient-Oriented Eczema Measure (POEM) were evaluated at baseline, and at weeks 16 and 52.
Among the 285 patients included, 41 (14%) had biallelic pathogenic FLG variants (FLG−/−), 64 (23%) had monoallelic pathogenic variants (FLG−/+), and 180 (63%) had wild-type alleles (FLG+/+). Three novel pathogenic variants were identified. There were no clinically significant differences in EASI, IGA, NRS pruritus, DLQI, or total POEM scores between patients with and without pathogenic FLG variants at all time points. However, the FLG−/− group exhibited significantly higher POEM flaking and dryness scores at weeks 16 (P < .001 and P = .002, respectively) and 52 (P < .001 and P = .016, respectively) compared to FLG+/+ patients, with significant differences also observed compared to FLG−/+, although delta scores showed no significant differences.
The study found that pathogenic FLG variants did not affect the efficacy of dupilumab treatment in patients with AD. However, it was observed that patients with biallelic pathogenic FLG variants tended to have drier skin before and during dupilumab therapy than those with monoallelic pathogenic or wild-type alleles. These findings could have implications for the management of patients with AD undergoing dupilumab therapy.
Reference: sciencedirect.com/science/article/pii/S0091674924000757